Definition

Turner syndrome, a condition that affects only girls and women, results when a sex chromosome (the X chromosome) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure to start puberty, infertility, heart defects, certain learning disabilities and social adjustment problems.

Turner syndrome may be diagnosed before birth (prenatal), during infancy or in early childhood. Occasionally the diagnosis is delayed until the teen or young adult years in those who have mild signs and symptoms of Turner syndrome.

Nearly all girls and women with Turner syndrome need ongoing medical care from a variety of specialists. Regular checkups and appropriate care can help most girls and women lead relatively healthy, independent lives.

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